Variant report

Variant	esv3399231
Chromosome Location	chr5:91340245-91365878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13765598..13766099-chr5:91346247..91346777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101247	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530260058	chr5:91346286-91346287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188710329	chr5:91346337-91346338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563676485	chr5:91346462-91346463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528235633	chr5:91346463-91346464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144217138	chr5:91346487-91346488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72775240	chr5:91346538-91346539	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148746940	chr5:91346552-91346553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114994180	chr5:91346566-91346567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144674461	chr5:91346604-91346605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562530814	chr5:91346610-91346611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567112455	chr5:91346636-91346637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147523014	chr5:91346640-91346641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555791033	chr5:91346720-91346721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371775660	chr5:91346722-91346723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575966641	chr5:91346736-91346737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371893546	chr5:91346748-91346749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552153094	chr5:91360851-91360852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547554733	chr5:91360881-91360882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10072695	chr5:91360884-91360885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs367966003	chr5:91360901-91360902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560847777	chr5:91360908-91360909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529792443	chr5:91361008-91361009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183566500	chr5:91361013-91361014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569624584	chr5:91361023-91361024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs371098372	chr5:91361030-91361031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs75600627	chr5:91361057-91361058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552870655	chr5:91361058-91361059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188440089	chr5:91361079-91361080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192882494	chr5:91361093-91361094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75409831	chr5:91361097-91361098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73133107	chr5:91361107-91361108	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568219462	chr5:91361130-91361131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184894517	chr5:91361173-91361174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73133108	chr5:91361184-91361185	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533993077	chr5:91361228-91361229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188147047	chr5:91361239-91361240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs6879054	chr5:91361259-91361260	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558455045	chr5:91361286-91361287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577213928	chr5:91361291-91361292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs572283455	chr5:91361310-91361311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs6879594	chr5:91361321-91361322	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561127324	chr5:91361348-91361349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529760694	chr5:91361358-91361359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191121234	chr5:91361423-91361424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556186050	chr5:91361511-91361512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563288591	chr5:91361605-91361606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183627364	chr5:91361642-91361643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs560835556	chr5:91361667-91361668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148357646	chr5:91361717-91361718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189216294	chr5:91361784-91361785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91360800-91363200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:91362400-91363200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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